DRG1
HGNC:3029 · SaudiVarKB evidence summary derived from retained literature mentions.
1Gene mentions
1Publications
1Linked variants
2Associated phenotypes
Associated phenotypes
Co-mentioned in DRG1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| developmental delay | HP:0001263 | 1 | 1 |
| neurodevelopmental disorder | HP:0012759 | 1 | 1 |
Linked variants
Variants normalized to DRG1| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| p.Asn248Phe | p.Asn248Phe | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 4 | 1 |
Supporting publications
1 records- 2023Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.Genetics in medicine : official journal of the American College of Medical GeneticsPubMed ↗